TCN2, transcobalamin 2, 6948

N. diseases: 104; N. variants: 30
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024291
Disease: Lymphohistiocytosis, Hemophagocytic
Lymphohistiocytosis, Hemophagocytic
0.010 GeneticVariation disease BEFREE A novel mutation of the transcobalamin II gene in an infant presenting with hemophagocytic lymphohistiocytosis. 24563082 2014